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Association of the CLC-Kb T481S polymorphism with childhood hypertension
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作者 Rainer Büscher 《Health》 2010年第7期682-684,共3页
Essential hypertension is a difficult diagnosis in children and the gene of the renal-epithelial chloride channel ClC-Kb is potentially predisposing. In vitro studies have shown that a common ClC-Kb threonine481serine... Essential hypertension is a difficult diagnosis in children and the gene of the renal-epithelial chloride channel ClC-Kb is potentially predisposing. In vitro studies have shown that a common ClC-Kb threonine481serine (T481S) polymorphism leads to enhanced chloride channel activity and may predispose for hypertension (HT). We therefore analysed children at risk for HT for the T481S polymorphism and associated genotype with blood pressure (BP) status. A total of 48 children with essential hypertension (mean age 14.4 &#177;2.7 years, 26 male;22 female;mean BP 143.4 &#177;7.5/88 &#177;5.8 mmHg) were compared with 78 children with white-coat HT (WCHT), who showed occasionally hypertensive BP values, which were not confirmed by ambulatory blood pressure monitoring (mean age 13.7 &#177;2.5 years, 49 male, 29 female;mean BP 122.4 &#177;4.3/68.2 &#177;3.5 mmHg). Other causes of HT were excluded. Allelic frequencies of hypertensive patients were not significantly different from those with WCHT (HT: A 0.84;T 0.16 vs. WCHT: A 0.85;T 0.15). However, the T-allele was observed more frequently in WCHT subjects with systolic and diastolic BP exceeding the 90th percentile (A 0.71;T 0.29, n = 34, p 【0.05, considered as borderline hypertensive). The preliminary data suggest that children with WCHT carry the ClC-Kb T481S polymorphism more often and that this variant may predispose for development of arterial HT. 展开更多
关键词 Essential HYPERTENSION White-Coat HYPERTENSION Ambulatory Blood Pressure Monitoring (Abpm) clc-kb T481s POLYMORPHISM Renal-Epithelial Chloride Channel
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膀胱移行细胞癌的ClC-3和NF-κB的表达及意义 被引量:5
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作者 汪岩 康劲松 +4 位作者 王心蕊 王医术 李洪岩 李扬 孙连坤 《吉林大学学报(医学版)》 CAS CSCD 北大核心 2007年第1期135-137,F0003,共4页
目的:探讨ClC-3和NF-κB在膀胱移行细胞癌中的表达及意义。方法:应用免疫组织化学染色技术检测31例病理诊断为膀胱移行细胞癌和6例正常膀胱组织中ClC-3和NF-κB的表达。结果:膀胱移行细胞癌组织中ClC-3主要在癌细胞的胞膜表达,阳性表达... 目的:探讨ClC-3和NF-κB在膀胱移行细胞癌中的表达及意义。方法:应用免疫组织化学染色技术检测31例病理诊断为膀胱移行细胞癌和6例正常膀胱组织中ClC-3和NF-κB的表达。结果:膀胱移行细胞癌组织中ClC-3主要在癌细胞的胞膜表达,阳性表达率74%(23/31)。其中膀胱移行细胞癌Ⅰ级阳性表达率40%(4/10),Ⅱ级阳性表达率81%(9/11)、Ⅲ级阳性表达率100%(10/10)。NF-κB在癌细胞的胞浆内表达,阳性表达率83%(26/31)。其中膀胱移行细胞癌Ⅰ级阳性表达率60%(6/10),Ⅱ级阳性表达率90%(10/11),Ⅲ级阳性表达率100%(10/10)。6例正常膀胱组织中仅有1例ClC-3表达弱阳性,NF-κB表达均为阴性。膀胱移行细胞癌组织中ClC-3和NF-κB阳性表达率高于正常膀胱组织(P<0.01)。结论:ClC-3和NF-κB可能与膀胱移行细胞癌病理分级和增殖有关。 展开更多
关键词 膀胱移行细胞癌 CLC-3 NF-KB 免疫组织化学
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CLCNKB基因在经典型Bartter综合征发病机制中的作用 被引量:4
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作者 周嘉然 王春莉 鲍华英 《中华医学遗传学杂志》 CAS CSCD 2020年第5期573-577,共5页
Bartter综合征是一种以低钾性碱中毒、高肾素-血管紧张素-醛固酮血症等为特征的遗传代谢性疾病。经典型Bartter综合征是Bartter综合征的常见类型,主要由编码位于基底膜侧的电压门控氯离子通道蛋白ClC-Kb的CLCNKB基因变异所致。该病各年... Bartter综合征是一种以低钾性碱中毒、高肾素-血管紧张素-醛固酮血症等为特征的遗传代谢性疾病。经典型Bartter综合征是Bartter综合征的常见类型,主要由编码位于基底膜侧的电压门控氯离子通道蛋白ClC-Kb的CLCNKB基因变异所致。该病各年龄段均可发病,主要见于儿童期,临床表现多变,从严重到非常轻微。本文综述了经典型Bartter综合征致病基因CLCNKB及其编码蛋白ClC-Kb的结构与功能,阐释了CLCNKB可能的变异机制,回顾了中国人群CLCNKB基因变异情况并对基因型-表型的相关性进行简单阐述。 展开更多
关键词 经典型Bartter综合征 CLCNKB基因 clc-kb 基因变异 基因型-表型相关性
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